ClinVar Miner

List of variants in gene PRKAG2 studied for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_016203.4(PRKAG2):c.*1061G>A rs7429 0.54155
NM_016203.4(PRKAG2):c.*112A>G rs8961 0.54129
NM_016203.4(PRKAG2):c.*522G>T rs1051956 0.53580
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_016203.4(PRKAG2):c.-90G>T rs76351165 0.05040
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_016203.4(PRKAG2):c.*452C>T rs17714947 0.03769
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_016203.4(PRKAG2):c.*384C>T rs75418446 0.00847
NM_016203.4(PRKAG2):c.*56G>A rs141781827 0.00626
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_016203.4(PRKAG2):c.*127C>G rs189787963 0.00397
NM_016203.4(PRKAG2):c.*572G>A rs78192883 0.00384
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.*964G>A rs75512992 0.00181
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.*614A>T rs567058170 0.00160
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.*156A>G rs28763997 0.00062
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.*135T>C rs184932311 0.00041
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.*365G>A rs886062098 0.00034
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.-249G>C rs534059998 0.00016
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=) rs768299371 0.00016
NM_016203.4(PRKAG2):c.-481G>A rs373697168 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016203.4(PRKAG2):c.*1030T>G rs867502251 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.187-4G>A rs752294420 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016203.4(PRKAG2):c.819C>T (p.Ile273=) rs764244463 0.00009
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=) rs764198777 0.00007
NM_016203.4(PRKAG2):c.*55C>T rs371637024 0.00006
NM_016203.4(PRKAG2):c.*6G>A rs181109799 0.00006
NM_016203.4(PRKAG2):c.1051+20T>C rs748641955 0.00006
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu) rs730880972 0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.*1043G>A rs1207057314 0.00004
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=) rs781153622 0.00004
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=) rs368852903 0.00004
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=) rs202056358 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys) rs730880989 0.00004
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu) rs876657963 0.00004
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=) rs556852534 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.*1012T>G rs886062095 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.-16A>G rs200468798 0.00003
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=) rs147365679 0.00003
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274 0.00003
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126 0.00003
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=) rs730880971 0.00003
NM_016203.4(PRKAG2):c.945A>G (p.Val315=) rs759393540 0.00003
NM_016203.4(PRKAG2):c.*419C>T rs951231157 0.00002
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922 0.00002
NM_016203.4(PRKAG2):c.1107-7C>T rs775881497 0.00002
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=) rs770946241 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile) rs778668093 0.00002
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln) rs730880983 0.00002
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter) rs770100112 0.00002
NM_016203.4(PRKAG2):c.201C>T (p.Phe67=) rs759893229 0.00002
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=) rs145827515 0.00002
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu) rs749753053 0.00002
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser) rs757556996 0.00002
NM_016203.4(PRKAG2):c.-6dup rs1203090914 0.00001
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val) rs769428744 0.00001
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=) rs770773856 0.00001
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr) rs1425296851 0.00001
NM_016203.4(PRKAG2):c.117C>T (p.Asp39=) rs1220899353 0.00001
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) rs139653890 0.00001
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=) rs779897567 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=) rs753059650 0.00001
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr) rs373919593 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val) rs730880984 0.00001
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) rs199863116 0.00001
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly) rs940818676 0.00001
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) rs730880980 0.00001
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=) rs755421350 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=) rs367768776 0.00001
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg) rs1430071393 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp) rs878855019 0.00001
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=) rs1196648905 0.00001
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys) rs1584912413 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln) rs763331532 0.00001
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser) rs754570613 0.00001
NM_016203.4(PRKAG2):c.265A>G (p.Met89Val) rs1471914210 0.00001
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His) rs375398155 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985 0.00001
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu) rs775756069 0.00001
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys) rs2076651870 0.00001
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly) rs768453540 0.00001
NM_016203.4(PRKAG2):c.390C>G (p.Ser130=) rs1400706351 0.00001
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=) rs1057520352 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu) rs150188173 0.00001
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser) rs755782342 0.00001
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.466+2T>G rs962806505 0.00001
NM_016203.4(PRKAG2):c.467-15G>A rs139162723 0.00001
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe) rs1832795622 0.00001
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe) rs748557485 0.00001
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile) rs766578540 0.00001
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro) rs969117866 0.00001
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=) rs558951955 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln) rs765259437 0.00001
NM_016203.4(PRKAG2):c.546C>T (p.His182=) rs1221506447 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=) rs781522393 0.00001
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe) rs267601424 0.00001
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=) rs149820808 0.00001
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly) rs730880987 0.00001
NM_016203.4(PRKAG2):c.648A>G (p.Pro216=) rs751742816 0.00001
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419 0.00001
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=) rs774279454 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625 0.00001
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) rs730880975 0.00001
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) rs756923555 0.00001
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=) rs201876556 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016203.4(PRKAG2):c.99G>A (p.Leu33=) rs1039938289 0.00001
NM_016203.4(PRKAG2):c.*1021T>G rs199973452
NM_016203.4(PRKAG2):c.*256T>G rs1803889003
NM_016203.4(PRKAG2):c.*398C>T rs1232386894
NM_016203.4(PRKAG2):c.*399G>A rs112179332
NM_016203.4(PRKAG2):c.*450T>C rs1803859194
NM_016203.4(PRKAG2):c.*471T>C rs1803856114
NM_016203.4(PRKAG2):c.*612G>A rs371404960
NM_016203.4(PRKAG2):c.*771C>T rs1803806831
NM_016203.4(PRKAG2):c.*835T>C rs886062097
NM_016203.4(PRKAG2):c.*887G>A rs886062096
NM_016203.4(PRKAG2):c.*953T>A rs552411344
NM_016203.4(PRKAG2):c.-15C>T
NM_016203.4(PRKAG2):c.-1T>C
NM_016203.4(PRKAG2):c.-252C>T rs546312513
NM_016203.4(PRKAG2):c.-262C>T rs886062103
NM_016203.4(PRKAG2):c.-287C>G rs75059373
NM_016203.4(PRKAG2):c.-5_1del (p.Met1del)
NM_016203.4(PRKAG2):c.1011G>T (p.Gln337His)
NM_016203.4(PRKAG2):c.1014T>A (p.Ile338=)
NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser) rs1563161306
NM_016203.4(PRKAG2):c.102C>G (p.Arg34=) rs1057522970
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg) rs2151024054
NM_016203.4(PRKAG2):c.1038T>G (p.Ile346Met) rs755029209
NM_016203.4(PRKAG2):c.1043C>T (p.Thr348Ile)
NM_016203.4(PRKAG2):c.1047G>A (p.Trp349Ter)
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu) rs587776643
NM_016203.4(PRKAG2):c.1051_1051+1dup
NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr) rs2151014616
NM_016203.4(PRKAG2):c.108C>T (p.His36=) rs753210415
NM_016203.4(PRKAG2):c.109A>C (p.Ile37Leu)
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.1106+15T>G rs193922696
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.1107-12del
NM_016203.4(PRKAG2):c.1107-4A>T
NM_016203.4(PRKAG2):c.1107-5dup
NM_016203.4(PRKAG2):c.110T>G (p.Ile37Ser)
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His) rs760826751
NM_016203.4(PRKAG2):c.111T>G (p.Ile37Met)
NM_016203.4(PRKAG2):c.1129T>C (p.Leu377=) rs1057521896
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1188T>G (p.Leu396=)
NM_016203.4(PRKAG2):c.1195C>T (p.Leu399Phe)
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val) rs2151920498
NM_016203.4(PRKAG2):c.1228C>A (p.Leu410Ile)
NM_016203.4(PRKAG2):c.1234-2A>G
NM_016203.4(PRKAG2):c.1243A>G (p.Met415Val)
NM_016203.4(PRKAG2):c.126C>T (p.Ser42=)
NM_016203.4(PRKAG2):c.1273C>T (p.Leu425=)
NM_016203.4(PRKAG2):c.1275G>A (p.Leu425=)
NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)
NM_016203.4(PRKAG2):c.1285G>C (p.Gly429Arg)
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala) rs2150996293
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.1314C>T (p.Phe438=) rs1563145514
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val) rs1344209675
NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala) rs1554455000
NM_016203.4(PRKAG2):c.1376C>T (p.Ala459Val) rs1806096948
NM_016203.4(PRKAG2):c.1386dup (p.Val463fs)
NM_016203.4(PRKAG2):c.1395G>C (p.Glu465Asp)
NM_016203.4(PRKAG2):c.1400-4T>A
NM_016203.4(PRKAG2):c.140T>A (p.Leu47His)
NM_016203.4(PRKAG2):c.1413T>C (p.Asp471=) rs1198002481
NM_016203.4(PRKAG2):c.1438-3C>T
NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) rs1554453641
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile) rs121908989
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) rs761196275
NM_016203.4(PRKAG2):c.147C>G (p.Asp49Glu)
NM_016203.4(PRKAG2):c.1482G>A (p.Val494=) rs770308227
NM_016203.4(PRKAG2):c.1495C>G (p.Gln499Glu)
NM_016203.4(PRKAG2):c.1501C>T (p.Arg501Cys)
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile) rs766113743
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)
NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=) rs376762359
NM_016203.4(PRKAG2):c.1561G>A (p.Val521Met) rs767550594
NM_016203.4(PRKAG2):c.1585-15C>T
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.1618A>G (p.Ser540Gly) rs1804709282
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
NM_016203.4(PRKAG2):c.1627G>T (p.Gly543Cys)
NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=) rs1258497596
NM_016203.4(PRKAG2):c.1635T>C (p.Ile545=) rs1804702981
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr) rs61744760
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_016203.4(PRKAG2):c.168A>G (p.Gly56=)
NM_016203.4(PRKAG2):c.171G>A (p.Lys57=) rs2077016039
NM_016203.4(PRKAG2):c.179C>T (p.Ser60Phe)
NM_016203.4(PRKAG2):c.187-13T>C
NM_016203.4(PRKAG2):c.213C>G (p.Ser71Arg)
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.23C>T (p.Thr8Ile)
NM_016203.4(PRKAG2):c.242C>T (p.Pro81Leu)
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.252G>A (p.Arg84=) rs2076658352
NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr)
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala) rs2076656944
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=) rs774628602
NM_016203.4(PRKAG2):c.308A>G (p.Lys103Arg)
NM_016203.4(PRKAG2):c.316T>G (p.Phe106Val)
NM_016203.4(PRKAG2):c.320C>G (p.Pro107Arg)
NM_016203.4(PRKAG2):c.331C>T (p.Gln111Ter)
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg) rs375174733
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser) rs1554596200
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys) rs763144065
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) rs775756069
NM_016203.4(PRKAG2):c.365G>A (p.Ser122Asn)
NM_016203.4(PRKAG2):c.369C>T (p.Phe123=)
NM_016203.4(PRKAG2):c.370A>C (p.Ser124Arg)
NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)
NM_016203.4(PRKAG2):c.389C>T (p.Ser130Phe)
NM_016203.4(PRKAG2):c.392C>A (p.Ser131Tyr)
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser) rs1386603764
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile) rs869025498
NM_016203.4(PRKAG2):c.417C>T (p.Asn139=)
NM_016203.4(PRKAG2):c.426C>G (p.Thr142=) rs1050947205
NM_016203.4(PRKAG2):c.467-10T>C rs727503378
NM_016203.4(PRKAG2):c.467-10T>G rs727503378
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup) rs1832797348
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His) rs2151477345
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=) rs1022959045
NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.538T>C (p.Tyr180His)
NM_016203.4(PRKAG2):c.539A>G (p.Tyr180Cys)
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu) rs145006140
NM_016203.4(PRKAG2):c.55G>A (p.Gly19Arg)
NM_016203.4(PRKAG2):c.55G>T (p.Gly19Trp)
NM_016203.4(PRKAG2):c.585T>C (p.Ser195=)
NM_016203.4(PRKAG2):c.586T>C (p.Ser196Pro)
NM_016203.4(PRKAG2):c.588C>T (p.Ser196=)
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=) rs587781126
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg) rs41317142
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.595G>T (p.Asp199Tyr)
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=) rs2151476806
NM_016203.4(PRKAG2):c.617C>G (p.Pro206Arg)
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.623C>T (p.Ser208Phe)
NM_016203.4(PRKAG2):c.629A>T (p.Gln210Leu) rs1585679990
NM_016203.4(PRKAG2):c.634C>T (p.Pro212Ser)
NM_016203.4(PRKAG2):c.636G>C (p.Pro212=)
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
NM_016203.4(PRKAG2):c.639C>G (p.Thr213=)
NM_016203.4(PRKAG2):c.63C>T (p.Gly21=)
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys) rs781267213
NM_016203.4(PRKAG2):c.653C>T (p.Ala218Val)
NM_016203.4(PRKAG2):c.656C>T (p.Ser219Leu)
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=) rs774279454
NM_016203.4(PRKAG2):c.667T>C (p.Tyr223His)
NM_016203.4(PRKAG2):c.66C>A (p.Gly22=)
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=) rs730880971
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
NM_016203.4(PRKAG2):c.69G>T (p.Lys23Asn)
NM_016203.4(PRKAG2):c.755-2A>G
NM_016203.4(PRKAG2):c.755-8del
NM_016203.4(PRKAG2):c.777T>C (p.Gly259=)
NM_016203.4(PRKAG2):c.786G>A (p.Met262Ile) rs756526745
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter) rs886062100
NM_016203.4(PRKAG2):c.78C>T (p.Ala26=)
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=) rs727504618
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000
NM_016203.4(PRKAG2):c.846C>G (p.Val282=)
NM_016203.4(PRKAG2):c.846C>T (p.Val282=) rs1563213791
NM_016203.4(PRKAG2):c.859_863del (p.Leu287fs)
NM_016203.4(PRKAG2):c.865-7T>C
NM_016203.4(PRKAG2):c.865-8T>C
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
NM_016203.4(PRKAG2):c.875C>G (p.Ala292Gly)
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_016203.4(PRKAG2):c.87G>A (p.Lys29=) rs2080410736
NM_016203.4(PRKAG2):c.892G>A (p.Ala298Thr)
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
NM_016203.4(PRKAG2):c.900T>A (p.Gly300=) rs1334497430
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) rs1268890991
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs) rs2151042865
NM_016203.4(PRKAG2):c.943G>A (p.Val315Ile)
NM_016203.4(PRKAG2):c.947-22_947-6dup rs1808529942
NM_016203.4(PRKAG2):c.947-7G>A rs1554464198
NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile) rs397517283
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=) rs397517284

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